Varaico: Literature-Extracted Genetic Variants

Gene:P2RX7
Variant:p.Y155H
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P2RX7

NM_002562.6:p.Y155H

Associated Papers

Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.

Kuras M et al.

Cancers, 2025

40075679 (PubMed )
Supplement: cancers-17-00832-s001.zip › Table_S5._SAAVs.xlsx › Table_S5A

The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.

Wang LY et al.

Innovation (cambridge (mass.)), 2025

39991480 (PubMed )
Supplement: mmc5.xlsx › Sheet1

Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease.

Rubino E et al.

Alzheimer's Research & Therapy, 2025

39810256 (PubMed )
Supplement: 13195_2024_1661_MOESM2_ESM.xlsx › Suppl._Table_2

Purinergic P2X receptor 7 (P2X7R) inhibition induced cytotoxicity in glioblastoma.

Drill M et al.

Plos One, 2025

P2RX7, an adaptive immune response gene, is associated with Parkinson's disease risk and age at onset.

Shani S et al.

Journal of Parkinson's Disease, 2024

Genetic polymorphisms in external apical root resorption and orthodontic tooth movements: A systematic review.

Andrade ALCÁ et al.

Korean Journal of Orthodontics, 2024

Genetic polymorphisms linked to extreme postorthodontic external apical root resorption in Koreans.

Liu J et al.

Progress in Orthodontics, 2024

ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.

Enyedi EE et al.

Biomedicines, 2024

38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf

P2RX7 gene variants associate with altered inflammasome assembly and reduced pyroptosis in chronic nonbacterial osteomyelitis (CNO).

Charras A et al.

Journal of Autoimmunity, 2024

Indicators of HSV1 Infection, ECM-Receptor Interaction, and Chromatin Modulation in a Nuclear Family with Schizophrenia.

Huang YC et al.

Journal of Personalized Medicine, 2023

37763159 (PubMed )
Supplement: jpm-13-01392-s001.zip › Supplementary_Table_S3.xlsx › Variants

Origin, distribution, and function of three frequent coding polymorphisms in the gene for the human P2X7 ion channel.

Schäfer W et al.

Frontiers in Pharmacology, 2022

Tumor Sequencing and Patient-Derived Xenografts in the Neoadjuvant Treatment of Breast Cancer.

Goetz MP et al.

Journal of the National Cancer Institute, 2017

28376176 (PubMed )
Supplement: djw306_Supp.zip › 16-0785R2_Goetz_Supplementary_Tables_3-6_111716.xlsx › Suppl_Table_5m

Systematic screening of isogenic cancer cells identifies DUSP6 as context-specific synthetic lethal target in melanoma.

Wittig-Blaich S et al.

Oncotarget, 2017

28423600 (PubMed )
Supplement: oncotarget-08-23760-s002.xlsx › Suppl._Table_S2

Genetic determinants and postorthodontic external apical root resorption in Czech children.

Borilova Linhartova P et al.

Oral Diseases, 2017

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A2-A04Y-01A.domain

Haplotypes of P2RX7 gene polymorphisms are associated with both cold pain sensitivity and analgesic effect of fentanyl.

Ide S et al.

Molecular Pain, 2014

Insights into the Molecular Mechanisms Underlying Mammalian P2X7 Receptor Functions and Contributions in Diseases, Revealed by Structural Modeling and Single Nucleotide Polymorphisms.

Jiang LH et al.

Frontiers in Pharmacology, 2013

A common missense variant in the ATP receptor P2X7 is associated with reduced risk of cardiovascular events.

Gidlöf O et al.

Plos One, 2012

P2X7 receptor gene polymorphism analysis in rheumatoid arthritis.

Al-Shukaili A et al.

International Journal of Immunogenetics, 2011

Residues 155 and 348 contribute to the determination of P2X7 receptor function via distinct mechanisms revealed by single-nucleotide polymorphisms.

Bradley HJ et al.

The Journal of Biological Chemistry, 2011

Analysis of single nucleotide polymorphisms in genes in the chromosome 12Q24.31 region points to P2RX7 as a susceptibility gene to bipolar affective disorder.

Barden N et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2006

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."